rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
|
8220423 |
1993 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
|
7829078 |
1994 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
|
11113224 |
2000 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
|
10097181 |
1999 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Novel RYR1 missense mutation causes core rod myopathy.
|
18312400 |
2008 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
|
11709545 |
2001 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
|
23558838 |
2013 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
|
9497245 |
1998 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A mutation in the human ryanodine receptor gene associated with central core disease.
|
8220422 |
1993 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
|
27586648 |
2016 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
|
27234031 |
2017 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
|
12937085 |
2003 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Novel RYR1 missense mutations in six Chinese patients with central core disease.
|
24561095 |
2014 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
|
21674524 |
2011 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
|
17204054 |
2007 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
|
20142353 |
2010 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
|
26381711 |
2015 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
|
12112081 |
2002 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
|
12565913 |
2003 |
rs28933396
|
|
Central Core Myopathy (disorder)
|
|
0.740 |
GeneticVariation
|
UNIPROT |
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
|
12136074 |
2002 |
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
|
7751854 |
1995 |
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
|
23558838 |
2013 |
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
|
12059893 |
2002 |
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
|
12123492 |
2002 |
rs28933396
|
|
Malignant hyperthermia susceptibility type 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
|
9066328 |
1997 |